Molecular-neurobehavioral associations in females with the fragile X full mutation

In this study, young females with the fragile X [fra(X)] full mutation (fM) were assessed using quantitative measures of mutation amplification size (Amp) as well as the ratio of active normal X chromosome to total normal X chromosome (activation ratio‐AR). Neurobehavioral assessments of females wit...

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Veröffentlicht in:	American journal of medical genetics 1994-07, Vol.51 (4), p.317-327
Hauptverfasser:	Abrams, Michael T., Reiss, Allan L., Freund, Lisa S., Baumgardner, Thomas L., Chase, Gary A., Denckla, Martha B.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult amplification size behavior Child Child, Preschool Dinucleoside Phosphates - metabolism DNA - metabolism Dosage Compensation, Genetic Female fragile X syndrome Fragile X Syndrome - complications Fragile X Syndrome - genetics Fragile X Syndrome - psychology Gene Dosage Heterozygote Humans intelligence Intelligence - genetics Intelligence Tests Mental Disorders - etiology Mental Disorders - genetics Methylation Mutation Neuropsychological Tests Phenotype Regression Analysis Repetitive Sequences, Nucleic Acid Risk Assessment Schizotypal Personality Disorder - etiology Schizotypal Personality Disorder - genetics
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